Canonical Allele Identifier: CA2512089787

Gene: STAB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52498037_52498038insACA , CM000665.2:g.52498037_52498038insACA	GRCh38
NC_000003.11:g.52532053_52532054insACA , CM000665.1:g.52532053_52532054insACA	GRCh37
NC_000003.10:g.52507093_52507094insACA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321725.10:c.78+2546_78+2547insACA MANE Select	ENSP00000312946.6:n.78+2546_78+2547insACA
ENST00000479355.1:n.123+2546_123+2547insACA
ENST00000481607.1:n.133+2546_133+2547insACA
NM_015136.2:c.78+2546_78+2547insACA	NP_055951.2:n.78+2546_78+2547insACA
XM_005264973.2:c.78+2546_78+2547insACA	XP_005265030.1:n.78+2546_78+2547insACA
XM_005264974.2:c.78+2546_78+2547insACA	XP_005265031.1:n.78+2546_78+2547insACA
XM_005264975.2:c.78+2546_78+2547insACA	XP_005265032.1:n.78+2546_78+2547insACA
XM_006713065.1:c.78+2546_78+2547insACA	XP_006713128.1:n.78+2546_78+2547insACA
XM_011533528.1:c.78+2546_78+2547insACA	XP_011531830.1:n.78+2546_78+2547insACA
XR_940395.1:n.154+2546_154+2547insACA
XM_005264973.3:c.78+2546_78+2547insACA	XP_005265030.1:n.78+2546_78+2547insACA
XM_017005998.1:c.78+2546_78+2547insACA	XP_016861487.1:n.78+2546_78+2547insACA
XM_017005999.1:c.78+2546_78+2547insACA	XP_016861488.1:n.78+2546_78+2547insACA
XM_017006000.1:c.78+2546_78+2547insACA	XP_016861489.1:n.78+2546_78+2547insACA
XM_017006001.1:c.78+2546_78+2547insACA	XP_016861490.1:n.78+2546_78+2547insACA
XM_017006002.1:c.78+2546_78+2547insACA	XP_016861491.1:n.78+2546_78+2547insACA
XM_017006003.1:c.78+2546_78+2547insACA	XP_016861492.1:n.78+2546_78+2547insACA
XM_017006004.2:c.78+2546_78+2547insACA	XP_016861493.1:n.78+2546_78+2547insACA
XR_001740064.1:n.154+2546_154+2547insACA
NM_015136.3:c.78+2546_78+2547insACA MANE Select	NP_055951.2:n.78+2546_78+2547insACA